A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684385



Internal ID21710706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203027623..203027623hg38UCSC Ensembl
chr2:203892346..203892346hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232994
Samples
Known GenesNBEAL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5684385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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